rs1135402740, SMCHD1

N. diseases: 4
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Arhinia, choanal atresia, and microphthalmia
CUI: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
18 0.925 0.240 18 2674018 missense variant T/G snv 0.800 1.000 1 2017 2017
Cryptorchidism
CUI: C0010417
Disease: Cryptorchidism
80 0.925 0.240 18 2674018 missense variant T/G snv 0.700 1.000 1 2017 2017
Short nose
CUI: C1854114
Disease: Short nose
23 0.925 0.240 18 2674018 missense variant T/G snv 0.700 1.000 1 2017 2017
Small penis
CUI: C0240701
Disease: Small penis
2 0.925 0.240 18 2674018 missense variant T/G snv 0.700 1.000 1 2017 2017